MDH1 - malate dehydrogenase 1 Gene

Homo sapiens

Also known as KAR; MDHA; MOR2; DEE88; MDH-s; EIEE88; HEL-S-32; MGC:1375

Gene ID: 4190 | Gene type: protein coding

About MDH1

Cytogenetic location: 2p15 Genomic coordinates (GRCh38): 2:63,588,963-63,607,197 (from NCBI)

This gene has 16 transcripts (splice variants), 301 orthologues, 1 paralogue and is associated with 1 phenotype. Broad expression in heart (RPKM 313.6), fat (RPKM 131.4) and 24 other tissues.

Summary

This gene encodes an Enzyme that catalyzes the NAD/NADH-dependent, reversible oxidation of malate to oxaloacetate in many metabolic pathways, including the citric acid cycle. Two main isozymes are known to exist in eukaryotic cells: one is found in the mitochondrial matrix and the other in the cytoplasm. This gene encodes the cytosolic isozyme, which plays a key role in the malate-aspartate shuttle that allows malate to pass through the mitochondrial membrane to be transformed into oxaloacetate for further cellular processes. Alternatively spliced transcript variants have been found for this gene. A recent study showed that a C-terminally extended isoform is produced by use of an alternative in-frame translation termination codon via a stop codon readthrough mechanism, and that this isoform is localized in the peroxisomes. Pseudogenes have been identified on chromosomes X and 6. [provided by RefSeq, Feb 2016]

MDH1 Products(4)

mRNA	Protein	Name
NM_001199111.2	NP_001186040.1	malate dehydrogenase, cytoplasmic isoform 2
NM_001199112.2	NP_001186041.1	malate dehydrogenase, cytoplasmic isoform 3
NM_001316374.2	NP_001303303.1	malate dehydrogenase, peroxisomal isoform MDH1x
NM_005917.4	NP_005908.1	malate dehydrogenase, cytoplasmic isoform MDH1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables L-malate dehydrogenase (NAD+) activity	EXP EXP: Inferred from Experiment	3052244	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	21044950	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in NADH metabolic process	IDA IDA: Inferred from direct assay	34547241	GOA
involved in NADP metabolic process	IDA IDA: Inferred from direct assay	34547241	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	34547241	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MDH1 Protein Structure

Ldh_1_N

Ldh_1_C

0
100
200
300
334 a.a.

Protein Preferred Names

Protein Names

malate dehydrogenase, cytoplasmic

malate dehydrogenase, peroxisomal

aromatic alpha-keto acid reductase

Recombinant MDH1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P70349	MDH1 Protein, Human (His)	P40925-1 (S2-A334)	≥95%

Related Diseases

Diseases

Alias

Developmental And Epileptic Encephalopathy 88

DEE88	Epileptic Encephalopathy, Early Infantile, 88
Eiee88	Early Infantile Epileptic Encephalopathy 88
Developmental And Epileptic Encephalopathy, 88

Developmental And Epileptic Encephalopathy 39

Hypomyelination, Global Cerebral	Agc1 Deficiency
Epileptic Encephalopathy, Early Infantile, 39	DEE39
Eiee39	Aspartate-Glutamate Carrier 1 Deficiency
Epileptic Encephalopathy With Global Cerebral Demyelination	Developmental And Epileptic Encephalopathy, 39
Early Infantile Epileptic Encephalopathy 39	Mitochondrial Aspartate-Glutamate Carrier 1 Deficiency
Global Cerebral Hypomyelination	Hereditary Central Nervous System Demyelinating Diseases

Immunodeficiency 24

Severe Combined Immunodeficiency Due To Ctps1 Deficiency	IMD24
Scid Due To Ctps1 Deficiency	Immunodeficiency, Type 24

Pancreatic Cancer

Pancreatic Carcinoma	Carcinoma Of Pancreas
Familial Pancreatic Carcinoma	Pancreatic Neoplasm
Pancreatic Carcinoma, Familial	Malignant Neoplasm Of Pancreas
Pancreatic Acinar Carcinoma	Pancreatic Tumor
Familial Pancreatic Cancer	Neoplasm Of The Pancreas
Cancer Of The Pancreas	Pancreatic Carcinoma, Somatic
Pancreatic Cancer, Somatic	Ca Body Of Pancreas
Ca Head Of Pancreas	Ca Tail Of Pancreas
Malignant Neoplasm Of Body Of Pancreas	Malignant Neoplasm Of Head Of Pancreas
Malignant Neoplasm Of Tail Of Pancreas	Pancreas Neoplasm
Exocrine Cancer	Exocrine Pancreas Carcinoma
Hereditary Pancreatic Cancer	Hereditary Pancreatic Carcinoma
PNCA	Pancreatic Cancer, Susceptibility To
Carcinoma Of Head Of Pancreas	Pancreatic Neoplasms
Pancreatic Tumors	Cancer, Pancreatic
Cancer Of Pancreas	Mixed Islet Cell With Exocrine Carcinoma Of Unspecified Site

Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Schizophrenia

SCZD	Schizophrenia With Or Without An Affective Disorder
Schizophrenia 12	Schizophrenia, Susceptibility To
Schizophrenia-1	Dementia Praecox
Schizophrenia 1

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy	Primary Dilated Cardiomyopathy
Idiopathic Dilated Cardiomyopathy	Congestive Cardiomyopathy
Idiopathic Dilation Cardiomyopathy	Primary Familial Dilated Cardiomyopathy
Cardiomyopathy, Dilated	DCM
Cardiomyopathy, Familial Dilated	Dilated Cardiomyopathy, Familial
Hypokinetic Dilated Cardiomyopathy, Familial	Familial Idiopathic Cardiomyopathy
Fdc	Cardiomyopathy, Familial Idiopathic
Idiopathic Cardiomegaly	Dilated Congestive Cardiomyopathy
Chronic Dilated Cardiomyopathy	Ccm - [Congestive Cardiomyopathy]
Cocm - [Congestive Cardiomyopathy]	Dcm - [Dilated Cardiomyopathy]
Dilated-Hypokinetic Cardiomyopathy	Congestive Idiopathic Cardiomyopathy
Primary Idiopathic Dilated Cardiomyopathy

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis	ALS
Lou Gehrig Disease	Amyotrophic Lateral Sclerosis Type 1
Charcot Disease	ALS1
Amyotrophic Lateral Sclerosis, Susceptibility To	Fals
Lou Gehrig'S Disease	Mnd
Motor Neuron Disease	Familial Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 1, Familial	Amyotrophic Lateral Sclerosis 1, Autosomal Dominant
Motor Neuron Disease, Bulbar	Motor Neurone Disease
Amyotrophic Lateral Sclerosis With Dementia	Dementia With Amyotrophic Lateral Sclerosis
Motor Neuron Disease, Amyotrophic Lateral Sclerosis	Sclerosis, Lateral, Amyotrophic
Sclerosis, Lateral, Amyotrophic, Type 1	Amyotrophic Sclerosis
Als - [Amyotrophic Lateral Sclerosis]	Wasting Palsy
Amyotrophic Paralysis	Amyotrophy Lateral Sclerosis
Wasting Paralysis	Spinal Progressive Amyotrophy
Progressive Atrophic Paralysis

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-147791	MDH1-IN-2		98.39%	Unkown
HY-147790	MDH1-IN-1		99.36%	Unkown
HY-RS08260	MDH1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	MDH1	MGD	MGI:97051
Canis familiaris	MDH1	VGNC	VGNC:43103
Felis catus	MDH1	VGNC	VGNC:68220
Macaca mulatta	MDH1	VGNC	VGNC:74690
Rattus norvegicus	MDH1	RGD	RGD:3072
Bos taurus	MDH1	VGNC	VGNC:31333
Others	MDH1	NCBI

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